Medical Dialogues
  • Dermatology
Login Register
This site is intended for healthcare professionals only
Login Register
  • Medical Jobs
  • Medical Matrimony
  • MD Brand Connect
  • MDTV
    • Anesthesia
    • CTVS
    • Cardiology
    • Critical Care
    • Dentistry
    • Dermatology
    • Diabetes and Endocrinology
    • Diet and nutrition
    • ENT
    • Gastroenterology
    • Health Dialogues
    • Health News today
    • Health Shorts
    • Health Updates
    • Health video of the day
    • Laboratory Medicine
    • Latest Videos
    • Latest Webinars
    • MD shorts
    • Medical News Today
    • Medical Updates
    • Medical Video of the day
    • Medicine
    • Medico Legal Update
    • Nephrology
    • Neurology and Neurosurgery
    • Obstetrics and Gynaecology
    • Oncology
    • Ophthalmology
    • Orthopaedics
    • Pediatrics & Neonatology
    • Psychiatry
    • Pulmonology
    • Radiology
    • Surgery
    • Top Videos
    • Urology
Medical Dialogues
  • Medical News
      • Anesthesiology
      • Cardiology and CTVS
      • Critical Care
      • Dentistry
      • Dermatology
      • Diabetes and Endocrinology
      • ENT
      • Gastroenterology
      • Medicine
      • Nephrology
      • Neurology
      • Obstretics-Gynaecology
      • Oncology
      • Ophthalmology
      • Orthopaedics
      • Pediatrics-Neonatology
      • Psychiatry
      • Pulmonology
      • Radiology
      • Surgery
      • Urology
      • Laboratory Medicine
      • Diet
      • Nursing
      • Paramedical
      • Physiotherapy
  • Health news
      • Doctor News
      • Government Policies
      • Hospital & Diagnostics
      • International Health News
      • MCI News
      • Medical Organization News
      • Medico Legal News
      • NBE News
      • NMC News
  • Medical Guidelines
      • Anesthesiology
      • Cardiology and CTVS
      • Critical Care
      • Dentistry
      • Dermatology
      • Diabetes and Endocrinology
      • ENT
      • Gastroenterology
      • Medicine
      • Nephrology
      • Neurology
      • Obstretics-Gynaecology
      • Oncology
      • Ophthalmology
      • Orthopaedics
      • Pediatrics-Neonatology
      • Psychiatry
      • Pulmonology
      • Radiology
      • Surgery
      • Urology
      • Laboratory Medicine
      • Diet
      • Nursing
      • Paramedical
      • Physiotherapy
  • AYUSH
    • Ayurveda
    • Homeopathy
    • Siddha
    • Unani
    • Yoga
  • State News
      • Andaman and Nicobar Islands
      • Andhra Pradesh
      • Arunachal Pradesh
      • Assam
      • Bihar
      • Chandigarh
      • Chattisgarh
      • Dadra and Nagar Haveli
      • Daman and Diu
      • Delhi
      • Goa
      • Gujarat
      • Haryana
      • Himachal Pradesh
      • Jammu & Kashmir
      • Jharkhand
      • Karnataka
      • Kerala
      • Ladakh
      • Lakshadweep
      • Madhya Pradesh
      • Maharashtra
      • Manipur
      • Meghalaya
      • Mizoram
      • Nagaland
      • Odisha
      • Puducherry
      • Punjab
      • Rajasthan
      • Sikkim
      • Tamil Nadu
      • Telangana
      • Tripura
      • Uttar Pradesh
      • Uttrakhand
      • West Bengal
  • Medical Education
      • Ayush Education News
      • Dentistry Education News
      • Medical Admission News
      • Medical Colleges News
      • Medical Courses News
      • Medical Universities News
      • Nursing education News
      • Paramedical Education News
      • Study Aborad
  • Industry
    • Health Investment News
    • Health Startup News
    • Medical Devices News
    • Pharma News
    • Pharmacy Education News
  • MDTV
      • Anesthesia
      • CTVS
      • Cardiology
      • Critical Care
      • Dentistry
      • Dermatology
      • Diabetes and Endocrinology
      • Diet and nutrition
      • ENT
      • Gastroenterology
      • Health Dialogues
      • Health News today
      • Health Shorts
      • Health Updates
      • Health video of the day
      • Laboratory Medicine
      • Latest Videos
      • Latest Webinars
      • MD shorts
      • Medical News Today
      • Medical Updates
      • Medical Video of the day
      • Medicine
      • Medico Legal Update
      • Nephrology
      • Neurology and Neurosurgery
      • Obstetrics and Gynaecology
      • Oncology
      • Ophthalmology
      • Orthopaedics
      • Pediatrics & Neonatology
      • Psychiatry
      • Pulmonology
      • Radiology
      • Surgery
      • Top Videos
      • Urology
This site is intended for healthcare professionals only
LoginRegister
Medical Dialogues
LoginRegister
  • Home
  • Medical news
    • Anesthesiology
    • Cardiology and CTVS
    • Critical Care
    • Dentistry
    • Dermatology
    • Diabetes and Endocrinology
    • ENT
    • Gastroenterology
    • Medicine
    • Nephrology
    • Neurology
    • Obstretics-Gynaecology
    • Oncology
    • Ophthalmology
    • Orthopaedics
    • Pediatrics-Neonatology
    • Psychiatry
    • Pulmonology
    • Radiology
    • Surgery
    • Urology
    • Laboratory Medicine
    • Diet
    • Nursing
    • Paramedical
    • Physiotherapy
  • Health news
    • Doctor News
    • Government Policies
    • Hospital & Diagnostics
    • International Health News
    • MCI News
    • Medical Organization News
    • Medico Legal News
    • NBE News
    • NMC News
  • Medical Guidelines
    • Anesthesiology
    • Cardiology and CTVS
    • Critical Care
    • Dentistry
    • Dermatology
    • Diabetes and Endocrinology
    • ENT
    • Gastroenterology
    • Medicine
    • Nephrology
    • Neurology
    • Obstretics-Gynaecology
    • Oncology
    • Ophthalmology
    • Orthopaedics
    • Pediatrics-Neonatology
    • Psychiatry
    • Pulmonology
    • Radiology
    • Surgery
    • Urology
    • Laboratory Medicine
    • Diet
    • Nursing
    • Paramedical
    • Physiotherapy
  • Medical Education
    • Ayush Education News
    • Dentistry Education News
    • Medical Admission News
    • Medical Colleges News
    • Medical Courses News
    • Medical Universities News
    • Nursing education News
    • Paramedical Education News
    • Study Aborad
  • Industry
    • Health Investment News
    • Health Startup News
    • Medical Devices News
    • Pharma News
      • CDSCO (Central Drugs Standard Control Organisation) News
    • Pharmacy Education News
  • Case of the Day
  • Editorial
  • Home
  • Medicine
  • Medicine Cases
  • Rare case of Anonychia ...

Rare case of Anonychia Congenita reported- A report

Dr. Shravani DaliWritten by Dr. Shravani Dali Published On 2021-12-14T09:00:38+05:30  |  Updated On 2021-12-14T09:01:08+05:30
Rare case of Anonychia Congenita reported- A report
  • Facebook
  • Twitter
  • Whatsapp
  • Telegram
  • Linkedin
  • Email
  • koo
  • Facebook
  • Twitter
  • Whatsapp
  • Telegram
  • Linkedin
  • Email
  • koo
  • Facebook
  • Twitter
  • Whatsapp
  • Telegram
  • Linkedin
  • Email
  • koo

A case study published in the Journal of the Association of Physicians of India reports a case of a 32-year-old female born of a non-consanguineous marriage presenting with complete absence of finger and toe nails since birth and similar presentation in family members over four generations, suggesting an autosomal dominant inheritance. Non syndromic Anonychia congenita or...

A case study published in the Journal of the Association of Physicians of India reports a case of a 32-year-old female born of a non-consanguineous marriage presenting with complete absence of finger and toe nails since birth and similar presentation in family members over four generations, suggesting an autosomal dominant inheritance.

Non syndromic Anonychia congenita or congenital absence of finger and toe nails is a rare disorder known to occur due to autosomal recessive inheritance of mutation in the R-spondin-4 gene. Absence of finger and toe nails is termed as anonychia. Anonychia or hyponychia is a rare disorder attributed to homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. 2,3 Anonychia or hyponychia may be partial or total and is usually associated with other skeletal or limb anomalies and various genetic syndromes like Coffin-Siris syndrome and Nail–patella syndrome. Non syndromic congenital anonychia is a rarer entity with only a few case reports in literature.4,5 The presence of an autosomal dominant form of the disease has not been reported to the best of our knowledge.

A 32-year-old female, presented with complete absence of fingernails and toenails since birth. She did not have any bony abnormalities, dysmorphic facies or abnormal hair or teeth. Her developmental milestones and intelligence were normal. Her family history was significant for complete anonychia over 4 generations. There was no history of consanguineous marriage among family members.

Although syndromes associated with anonychia are usually autosomal dominant (like Coffin-Siris syndrome and nail-patella syndrome), isolated non-syndromic congenital anonychia has an autosomal recessive inheritance pattern. A partial autosomal dominant form of the disease affecting only the thumb is also known. Most of the case reports of non-syndromic anonychia are seen in consanguineous marriages and are not known to affect more than one generation. In this case, presence of anonychiawas observed over 4 generations. This along with the absence of a consanguineous marriage precludes the presence of autosomal recessive inheritance. Whether, this can be attributed to autosomal dominant mutation of the same or different gene will be a question for future research. A detailed genetic evaluation could not be done in our case due to financial and technical limitations.

Reference:

Anonychia Congenita - Rare Inheritance of a Rare Disorder by Jain Vasudha et al. published in the Journal of the Association of Physicians of India.

https://www.japi.org/x2a4b464/anonychia-congenita-rare-inheritance-of-a-rare-disorder


Anonychia Congenita case study congenital absence of finger and toe nails autosomal dominant inheritance journal of the association of physicians of india 
Source : Journal of the Association of Physicians of India
Dr. Shravani Dali
Dr. Shravani Dali

    BDS

    Dr. Shravani Dali has completed her BDS from Pravara institute of medical sciences, loni. Following which she extensively worked in the healthcare sector for 2+ years. She has been actively involved in writing blogs in field of health and wellness. Currently she is pursuing her Masters of public health-health administration from Tata institute of social sciences. She can be contacted at editorial@medicaldialogues.in.

    Show Full Article
    Next Story
    Similar Posts
    NO DATA FOUND

    Editorial

    Bronchial Asthma - Early Indicators for Diagnosis and Its Management in Indian Practice Settings

    Bronchial Asthma - Early Indicators for Diagnosis and Its Management in Indian Practice Settings

    Role of metoprolol tartrate in management of acute myocardial infarction in the present era

    Role of metoprolol tartrate in management of acute myocardial infarction in the present era

    Managing co-existing allergic rhinitis and asthma: Analyzing the role of Montelukast-levocetirizine combination

    Managing co-existing allergic rhinitis and asthma: Analyzing the role of Montelukast-levocetirizine...

    Casirivimab/Imdevimab - An Indian Real World Experience : Review

    Casirivimab/Imdevimab - An Indian Real World Experience : Review

    Anti-diabetic drug and NASH: Current Options in 2022

    Anti-diabetic drug and NASH: Current Options in 2022

    View All

    Journal Club Today

    Training Virtually Can Reduce Psychosocial Stress, Anxiety

    Training Virtually Can Reduce Psychosocial Stress, Anxiety

    View All

    Health News Today

    Health Bulletin 24/June/2022

    Health Bulletin 24/June/2022

    View All
    © 2022 All Rights Reserved.
    Powered By: Hocalwire
    We use cookies for analytics, advertising and to improve our site. You agree to our use of cookies by continuing to use our site. To know more, see our Cookie Policy and Cookie Settings.Ok
    X
    X